Rare Disease Library

Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

Jagell-Holmgren-Hofer syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

Holmes-Gang syndrome

Holzgreve syndrome

Holzgreve-Wagner-Rehder syndrome · Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome